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Q02575

- HEN1_HUMAN

UniProt

Q02575 - HEN1_HUMAN

Protein

Helix-loop-helix protein 1

Gene

NHLH1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 4 out of 5- Experimental evidence at protein leveli
  1. Functioni

    May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.

    GO - Molecular functioni

    1. RNA polymerase II regulatory region sequence-specific DNA binding Source: NTNU_SB
    2. RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription Source: NTNU_SB

    GO - Biological processi

    1. cell differentiation Source: UniProtKB-KW
    2. central nervous system development Source: ProtInc
    3. positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB

    Keywords - Molecular functioni

    Developmental protein

    Keywords - Biological processi

    Differentiation, Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Enzyme and pathway databases

    SignaLinkiQ02575.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Helix-loop-helix protein 1
    Short name:
    HEN-1
    Alternative name(s):
    Class A basic helix-loop-helix protein 35
    Short name:
    bHLHa35
    Nescient helix loop helix 1
    Short name:
    NSCL-1
    Gene namesi
    Name:NHLH1
    Synonyms:BHLHA35, HEN1
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:7817. NHLH1.

    Subcellular locationi

    Nucleus PROSITE-ProRule annotation

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA31619.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 133133Helix-loop-helix protein 1PRO_0000127197Add
    BLAST

    Proteomic databases

    PRIDEiQ02575.

    PTM databases

    PhosphoSiteiQ02575.

    Expressioni

    Gene expression databases

    ArrayExpressiQ02575.
    BgeeiQ02575.
    CleanExiHS_NHLH1.
    GenevestigatoriQ02575.

    Organism-specific databases

    HPAiCAB004755.
    CAB033854.
    HPA017943.

    Interactioni

    Subunit structurei

    Efficient DNA binding requires dimerization with another bHLH protein.

    Protein-protein interaction databases

    BioGridi110872. 7 interactions.
    IntActiQ02575. 3 interactions.
    STRINGi9606.ENSP00000302189.

    Structurei

    3D structure databases

    ProteinModelPortaliQ02575.
    SMRiQ02575. Positions 82-132.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini75 – 12753bHLHPROSITE-ProRule annotationAdd
    BLAST

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi66 – 716Poly-Arg

    Sequence similaritiesi

    Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

    Phylogenomic databases

    eggNOGiNOG264916.
    HOGENOMiHOG000016617.
    HOVERGENiHBG016345.
    InParanoidiQ02575.
    KOiK09075.
    OMAiMMLNSDA.
    OrthoDBiEOG7G1V82.
    PhylomeDBiQ02575.

    Family and domain databases

    Gene3Di4.10.280.10. 1 hit.
    InterProiIPR011598. bHLH_dom.
    [Graphical view]
    PfamiPF00010. HLH. 1 hit.
    [Graphical view]
    SMARTiSM00353. HLH. 1 hit.
    [Graphical view]
    SUPFAMiSSF47459. SSF47459. 1 hit.
    PROSITEiPS50888. BHLH. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q02575-1 [UniParc]FASTAAdd to Basket

    « Hide

    MMLNSDTMEL DLPPTHSETE SGFSDCGGGA GPDGAGPGGP GGGQARGPEP    50
    GEPGRKDLQH LSREERRRRR RATAKYRTAH ATRERIRVEA FNLAFAELRK 100
    LLPTLPPDKK LSKIEILRLA ICYISYLNHV LDV 133
    Length:133
    Mass (Da):14,618
    Last modified:July 1, 1993 - v1
    Checksum:iFE90B574BE16D2C6
    GO

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M97507 Genomic DNA. Translation: AAA58634.1.
    BC013789 mRNA. Translation: AAH13789.1.
    CCDSiCCDS1204.1.
    PIRiB46167. A45075.
    RefSeqiNP_005589.1. NM_005598.3.
    UniGeneiHs.30956.

    Genome annotation databases

    EnsembliENST00000302101; ENSP00000302189; ENSG00000171786.
    GeneIDi4807.
    KEGGihsa:4807.
    UCSCiuc001fwa.2. human.

    Polymorphism databases

    DMDMi399885.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M97507 Genomic DNA. Translation: AAA58634.1 .
    BC013789 mRNA. Translation: AAH13789.1 .
    CCDSi CCDS1204.1.
    PIRi B46167. A45075.
    RefSeqi NP_005589.1. NM_005598.3.
    UniGenei Hs.30956.

    3D structure databases

    ProteinModelPortali Q02575.
    SMRi Q02575. Positions 82-132.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 110872. 7 interactions.
    IntActi Q02575. 3 interactions.
    STRINGi 9606.ENSP00000302189.

    PTM databases

    PhosphoSitei Q02575.

    Polymorphism databases

    DMDMi 399885.

    Proteomic databases

    PRIDEi Q02575.

    Protocols and materials databases

    DNASUi 4807.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000302101 ; ENSP00000302189 ; ENSG00000171786 .
    GeneIDi 4807.
    KEGGi hsa:4807.
    UCSCi uc001fwa.2. human.

    Organism-specific databases

    CTDi 4807.
    GeneCardsi GC01P160336.
    HGNCi HGNC:7817. NHLH1.
    HPAi CAB004755.
    CAB033854.
    HPA017943.
    MIMi 162360. gene.
    neXtProti NX_Q02575.
    PharmGKBi PA31619.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG264916.
    HOGENOMi HOG000016617.
    HOVERGENi HBG016345.
    InParanoidi Q02575.
    KOi K09075.
    OMAi MMLNSDA.
    OrthoDBi EOG7G1V82.
    PhylomeDBi Q02575.

    Enzyme and pathway databases

    SignaLinki Q02575.

    Miscellaneous databases

    GeneWikii NHLH1.
    GenomeRNAii 4807.
    NextBioi 18524.
    PROi Q02575.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q02575.
    Bgeei Q02575.
    CleanExi HS_NHLH1.
    Genevestigatori Q02575.

    Family and domain databases

    Gene3Di 4.10.280.10. 1 hit.
    InterProi IPR011598. bHLH_dom.
    [Graphical view ]
    Pfami PF00010. HLH. 1 hit.
    [Graphical view ]
    SMARTi SM00353. HLH. 1 hit.
    [Graphical view ]
    SUPFAMi SSF47459. SSF47459. 1 hit.
    PROSITEi PS50888. BHLH. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma."
      Brown L., Espinosa R. III, le Beau M.M., Siciliano M.J., Baer R.
      Proc. Natl. Acad. Sci. U.S.A. 89:8492-8496(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
      Tissue: Brain.
    2. "A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system."
      Lipkowitz S., Gobel V., Varterasian M.L., Nakahara K., Tchorz K., Kirsch I.R.
      J. Biol. Chem. 267:21065-21071(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
      Tissue: Brain.
    3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Eye.

    Entry informationi

    Entry nameiHEN1_HUMAN
    AccessioniPrimary (citable) accession number: Q02575
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: July 1, 1993
    Last modified: October 1, 2014
    This is version 124 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3